National PKU Alliance Conference 2018: Update

Hey guys!

I am so sorry I have been MIA. Pregnancy was not my friend and in April we welcomed our second son, Weston, and we have just been trying to adjust to our new family of four. It has been a great change for us but definitely a busy last couple of months. Boston absolutely ADORES his little brother, Wes. It’s the sweetest thing to witness.

Cody and I recently returned from the National PKU Alliance Conference in Atlanta, Georgia. It was truly amazing, if you ever get the chance to attend one- you must! It is good for your soul.

I wanted to update those of you who couldn’t attend on some really great things happening in our PKU world and just a few things that we learned while we were there.

  1. A cure is on the horizon. I feel it in my bones and I could not be more excited. Homology is currently working on gene editing (taking the damaged PAH enzyme –altering it to work- and returning back.) They recently did a trial in mice and it has shown to be extremely successful and they will start human trials in 2019. WHAT A MIRACLE!
  2. Treatments for PKU are increasing. 10 years ago before the NPKUA was founded there were maybe 2 pharmaceutical companies working on a treatment for PKU. Now there are over 20! We learned more about Pegivalase (previously known as Peg-pal), Liver stem cell therapy, Kuvan, probiotic therapies and many other different treatment options in the works. Pharmaceutical companies for years didn’t put a lot of effort into treatments for PKU because it was manageable through diet. STILLà not an acceptable way of life.
  3. I’ve learned that living with PKU from the outside eye looks much easier than what it actually is. Which is true. People think its just a vegetarian diet or gluten-free diet. They never really understand the full extent of weighing and counting everything they eat.  I knew a couple (The Parkers) from my hometown that had two children with PKU (small world because it is so rare) and they made it seem effortless to everyone around them. Which is great—they did their job as parents to make their kids feel as “normal” as possible. I never really knew the extent of how HARD it truly was, until I found myself with a child with PKU. We try to do the exact same thing for Boston—we make people aware, but try to make it seem effortless at play dates, birthdays, and dinner with friends. It’s just not as easy as we make it seem. Which is why all these advancement are a HUGE celebration for us in the PKU community. Everyone is deserving of a treatment or a cure.
  1. The power of empowering our children with PKU and not enabling. This is huge for me because I often worry I’m either too hard on Boston or I baby him too much. Truth is he may have trouble have with executive function due to PKU but that doesn’t give him an excuse and he should be treated the same as every other kid in daycare/school. We learned how to help navigate Boston in a positive direction. (I’m happy to share more information in regards to this topic with anyone else who is interested.)
  2. “Formula”- NO more. We are getting away from calling Boston’s PKU Formula…”Formula” (he’s almost three and we decided to go with something that will transition to childhood and adulthood more easily. We call it “Muscle Milk” (feel free to use as well) because essentially it is his protein shake. My husband takes one while working out to increase his protein intake and Boston does the same daily (minus the phenylalanine in his.)
  3. We learned how important it is to be involved. It is so important to KNOW people, to be connected, to be an advocate for your child. Whether that is doing fundraisers, being involved in state foundations, or just connecting with people through social media. IT IS KEY to have friends that also experience the same struggles and triumphs, as you do. Amy Oliver said it best when she said “Its like the best day ever when you finally find the Follow Your Heart Mozzarella Cheese that your child absolutely loves at such and such place.” Anyone with a child with PKU understands the struggle. Boston loves the Strawberry So Delicious ice cream and right now I cant find it. They day I do find it I will share it with all my PKU friends because they just get it. My best friend and my co-workers wouldn’t get what a HUGE deal that is for me—but they will. We recently successfully transitioned Boston from a bottle to a sippy for his “muscle milk.” This is HUGE in our world but most of my friends transitioned with their kids at 1 year. So they don’t get it what a huge hurdle that was for us. We’ve had to deal with our health insurance company denying Boston of his formula since my husband’s health insurance is out of Oklahoma…STRESSFUL. But we’ve had many of our PKU friends in different states come to our rescue to try and help us. CONNECTION IS ESSENTIAL!

The conference was truly amazing! It was educational and fun! I can’t tell you enough how great it was to connect with some of our friends through social media in person at the conference and to also meet new friends. We definitely plan on attending again. I hope this blog helps many of you feel updated on what is happening in our world that couldn’t attend.

We feel infinitely blessed.

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The Barretts